ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825698838
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517270
ClinVar RCV Id:
RCV002027229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Arg206Cys
CA6053448
NM_001130702.2:c.616C>T